Mutations in mitochondrial histidyl tRNA synthetase (HARS2) is not associated with premature ovarian failure in a cohort of 69 patients

Abstract

Previous linkage and sequencing analysis revealed the genetic basis of Perrault syndrome (ovarian dysgenesis and sensorineural hearing loss) in a non-consanguineous family with five affected siblings. Compound heterozygosity for two highly conserved amino acids, L200V and V368L were found in the mitochondrial histidyl tRNA synthetase (HARS2) gene (Pierce, 2011). Functional studies suggested that the Perrault syndrome in this family was caused by the reduction of HARS2 activity. We hypothesized that these mutations may be overrepresented in women with sporadic premature ovarian failure (POF).